ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829689396
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54298
ClinVar RCV Id:
RCV000047530
RCV000077491
RCV000214482
RCV000417626
RCV000985370
RCV002272044
RCV003492377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val478Ile
CA001053
NM_007297.4:c.1432G>A