ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659265
Gene: COL6A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449647
ClinVar RCV Id:
RCV000523131
RCV001851493
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001839.2:p.Thr205Met
CA410518471
NM_001848.3:c.614C>T