ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827105109
Gene: MYLK
HGNC
NCBI
Linked Data
ClinVar Variation Id:
252775
ClinVar RCV Id:
RCV000238608
RCV000557660
RCV000657149
RCV001192846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001308238.1:p.Ala1650Val
CA073013
NM_001321309.2:c.4949C>T