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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
Allele Registry
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Canonical Allele Identifier:
CA1697942197
Gene: GHRHR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.30968976_30968977delinsCT , CM000669.2:g.30968976_30968977delinsCT
GRCh38
NC_000007.13:g.31008591_31008592delinsCT , CM000669.1:g.31008591_31008592delinsCT
GRCh37
NC_000007.12:g.30975116_30975117delinsCT
NCBI36
NG_021416.1:g.9956_9957delinsCT
Transcript Alleles
HGVS
Amino-acid change
ENST00000326139.7:c.160+40_160+41delinsCT
MANE Select
ENSP00000320180.2:n.160+40_160+41delinsCT...
ENST00000326139.6:c.160+40_160+41delinsCT
ENSP00000320180.2:n.160+40_160+41delinsCT...
NM_000823.3:c.160+40_160+41delinsCT
NP_000814.2:n.160+40_160+41delinsCT
NM_000823.4:c.160+40_160+41delinsCT
MANE Select
NP_000814.2:n.160+40_160+41delinsCT
Search 100 bp 5'
Search 100 bp 3'