ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829693673
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000077556
RCV000164922
RCV001339366
RCV001355516
ClinVar Variation:
55036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala1246Val
CA002501
NM_007297.4:c.3737C>T