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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
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Canonical Allele Identifier:
CA1420511332
Gene: GHSR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.172447307_172447311delinsAAGAG , CM000665.2:g.172447307_172447311delinsAAGAG
GRCh38
NC_000003.11:g.172165097_172165101delinsAAGAG , CM000665.1:g.172165097_172165101delinsAAGAG
GRCh37
NC_000003.10:g.173647791_173647795delinsAAGAG
NCBI36
NG_021159.1:g.6146_6150delinsCTCTT
Transcript Alleles
HGVS
Amino-acid Change
ENST00000241256.3:c.796+307_796+311delinsCTCTT
MANE Select
ENSP00000241256.2:n.796+307_796+311delinsCTCTT
ENST00000241256.2:c.796+307_796+311delinsCTCTT
ENSP00000241256.2:n.796+307_796+311delinsCTCTT
NM_198407.2:c.796+307_796+311delinsCTCTT
MANE Select
NP_940799.1:n.796+307_796+311delinsCTCTT
Search 100 bp 5'
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