ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829694310
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
485125
ClinVar RCV:
RCV000584590
RCV001251289
RCV001284545
RCV001340130
RCV002250663
RCV003153756
ClinVar Variation:
491071
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1357Arg
CA059655
NM_007297.4:c.4070T>G