ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827627639
Gene: ABCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
143119
ClinVar RCV Id:
RCV000132641
RCV000499136
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001338729.1:p.Arg1243Trp
CA232835
NM_001351800.1:c.3727C>T