ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830146088
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
285449
ClinVar RCV:
RCV000327990
RCV002523126
RCV003144226
RCV003168508
ClinVar Variation:
335135
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.His524Arg
CA2189460
NM_057165.5:c.1571A>G