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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:
CA1857677074
Gene: PSAT1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1828555254
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.78329886del , CM000671.2:g.78329886del
GRCh38
NC_000009.11:g.80944802del , CM000671.1:g.80944802del
GRCh37
NC_000009.10:g.80134622del
NCBI36
NG_012165.1:g.37744del
Transcript Alleles
HGVS
Amino-acid change
ENST00000376588.4:c.*800del
MANE Select
ENSP00000365773.3:n.*800del
ENST00000376588.3:c.*800del
ENSP00000365773.3:n.*800del
NM_021154.4:c.*800del
NP_066977.1:n.*800del
NM_058179.3:c.*800del
NP_478059.1:n.*800del
NM_058179.4:c.*800del
MANE Select
NP_478059.1:n.*800del
NM_021154.5:c.*800del
NP_066977.1:n.*800del
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