ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499295394
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1015193
ClinVar RCV Id:
RCV001314019
RCV002329264
RCV002504481
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_444255.3:p.Arg1480Gln
CA354227347
NM_053027.4:c.4439G>A