ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690839
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531240
ClinVar RCV Id:
RCV000637400
RCV000773027
RCV001354965
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys692Gln
CA10597568
NM_007297.4:c.2074A>C