ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA257723
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17155
ClinVar RCV Id:
RCV000018695
RCV001781280
RCV003764593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Gly271Ser
CA257720
NM_058175.3:c.811G>A