ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA193739
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000165574
RCV000458990
RCV000662805
RCV000985373
ClinVar Variation:
186051
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile571Met
CA001123
NM_007294.4:c.1713A>G