ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690638
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54455
ClinVar RCV Id:
RCV000111765
RCV000130220
RCV000440541
RCV000677807
RCV000985379
RCV001324951
RCV004554655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp648Asn
CA001383
NM_007297.4:c.1942G>A