ClinGen Allele Registry
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Canonical Allele Identifier:
PA645433112
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
350917
ClinVar RCV:
RCV000270969
RCV000363224
RCV000512764
RCV001865241
ClinVar Variation:
340363
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001840.3:p.Ala217Thr
CA10071363
NM_001849.4:c.649G>A