ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829694049
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
37563
ClinVar RCV Id:
RCV000031144
RCV000565627
RCV000637817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Gln1312Glu
CA002605
NM_007297.4:c.3934C>G