ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670868
Gene: COL12A1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000539466
RCV001566196
RCV004024348
ClinVar Variation:
475884
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Leu203Ile
CA3894392
NM_004370.6:c.607C>A