ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658670948
Gene: COL12A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
475877
ClinVar RCV Id:
RCV000537883
RCV001509278
RCV001542757
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004361.3:p.Val1823Ile
CA3893123
NM_004370.6:c.5467G>A